| |
| | Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a ... |
 | | 4 Boccone, L., Meloni, A., Falchi, A.M., Usai, V. and Cao, A. (1994) Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46, XY, t(3;7)(q23;q32)]. |
 | | 5 Praphanphoj, V., Goodman, B.K., Thomas, G.H., Niel, K.M., Toomes, C., Dixon, M.J. and Geraghty, M.T. (2000) Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). |
 | | 12 Lawson, C.T., Toomes, C., Fryer, A., Carette, M.J., Taylor, G.M., Fukushima, Y. and Dixon, M.J. (1995) Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. |
| hmg.oxfordjournals.org /cgi/content/full/10/15/1591 (5057 words) |
|